Visual impairment and blindness potentially caused by vitamin A deficiency were comparable between patients given patisiran, vutrisiran, and a placebo. There were no safety findings associated with ...

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jennifer Miller, MD, a professor of pediatric endocrinology at the University of Florida in Gainesville who specializes in ...

In a nonhuman primate model of acquired hemophilia A, treatment with PS-siRNA 40031 restored thrombin generation to normal levels. Reducing protein S (PS) levels can increase thrombin generation and ...

Gastrointestinal involvement in systemic mastocytosis (SM) is a common complication and often leads to endoscopic findings. Gastrointestinal (GI) symptoms are the second most frequent clinical ...

Several factors can contribute to the suppression of bone marrow erythropoiesis in infants with HDFN, including maternal antibodies, intrauterine transfusion, and simple transfusion. The suppression ...

Today marks my 231st enzyme replacement therapy (ERT) that I receive every 2 weeks as a treatment for living with Pompe disease. That is 9 years since I was diagnosed with this rare condition, and it ...

The V617F mutation in the Jak2 gene was significantly correlated with higher hemoglobin levels and white blood cell, absolute neutrophil, and eosinophil counts, and lower bone marrow blast counts. A ...

Generalized pustular psoriasis (GPP) is a rare and severe immune-mediated disorder in which widespread pustules form on the skin. 1 Pustules in GPP can affect large areas of the body, arms, and legs.

From left: Michele Herndon, Amy Gray, and Mary Morlino of the Undiagnosed Diseases Network Foundation (Photo by Larry Luxner) The Undiagnosed Diseases Network Foundation was founded in 2023 to help ...

Which of the statements below about sickle cell disease (SCD) are correct? Select one of the options for each question, then submit your answers to see how well you scored and how other test takers ...

Treatment was well-tolerated, with a safety profile consistent with prior treprostinil studies and no new safety signals. Nebulized treprostinil (Tyvaso ®) demonstrated superiority over placebo in ...

The Stride Velocity 95th Centile (SV95C) showed sensitivity to a decline in the ability to walk over short intervals in patients with Duchenne muscular dystrophy (DMD), according to a new study ...